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Related Concept Videos

Diabetic Neuropathy01:22

Diabetic Neuropathy

DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...
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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
Local Anesthetics: Differential Sensitivity of Nerve Fibers01:24

Local Anesthetics: Differential Sensitivity of Nerve Fibers

Local anesthetics (LAs) block the sodium channels of nerve trunks, sensory nerve endings, and neuromuscular junctions. Although LAs can block all kinds of nerves, the sensitivity of nerve fibers differs according to nerve types and structures. LAs are known to block myelinated fibers faster than unmyelinated ones. Also, they block pain or sensory neurons at low concentrations without affecting the motor neurons involved in muscle contractions. This helps relieve labor pain without affecting the...
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Peripheral Nervous System: Ganglia and Nerves

The Peripheral Nervous System (PNS) is a crucial component of the body's neural network, extending beyond the central nervous system (CNS) to bridge the gap between the CNS and the external environment. It encompasses nerves, ganglia, and sensory receptors.
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Related Experiment Video

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Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
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Published on: May 17, 2024

Inherited peripheral neuropathies.

Michael E Shy

    Continuum (Minneapolis, Minn.)
    |July 20, 2012
    PubMed
    Summary
    This summary is machine-generated.

    Charcot-Marie-Tooth disease (CMT) involves mutations in Schwann cells and axons. This review aids neurologists in diagnosing inherited neuropathies and understanding peripheral nervous system (PNS) function.

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    Published on: August 25, 2023

    Area of Science:

    • Genetics
    • Neurology
    • Molecular Biology

    Background:

    • Hereditary motor and sensory neuropathies, or Charcot-Marie-Tooth disease (CMT), result from mutations in genes affecting Schwann cells and axons.
    • Over 40 genes are known to cause inherited neuropathies, with more being discovered, posing diagnostic challenges.
    • Tracking these disorders and determining appropriate genetic testing is complex for clinicians.

    Purpose of the Study:

    • To provide guidance for neurologists on managing patients with inherited neuropathies.
    • To clarify when genetic testing should be pursued and which tests to order.
    • To use Charcot-Marie-Tooth disease (CMT) as a model for understanding peripheral nervous system (PNS) function and neurodegenerative disorders.

    Main Methods:

    • Review of current literature on genetic causes of inherited neuropathies.
    • Analysis of diagnostic challenges and genetic testing strategies.
    • Case study illustrations to guide clinical decision-making.

    Main Results:

    • Identification of over 40 causative genes for inherited neuropathies.
    • Mapping of chromosomal localizations for numerous distinct inherited neuropathies.
    • Ongoing discovery of new genetic causes for these disorders.

    Conclusions:

    • Charcot-Marie-Tooth disease (CMT) research provides insights into essential molecules for peripheral nervous system (PNS) health.
    • Understanding molecular interactions in CMT aids in comprehending peripheral neuropathy pathogenesis.
    • This knowledge can advance understanding of other PNS neurodegenerative disorders.